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Up to: Inherited porphyria
UROD-related inherited porphyria
Porphyria caused by monoallelic and biallelic variants in UROD and presenting as a spectrum of disease (a semidominant inheritance pattern). Additionally, environmental factors almost always play a role in the disease. Monoallelic variants when exacerbated by environmental factors can result in episodic adult onset of photosensitivity. Biallelic variants that reduce WT enzyme activity <20% cause childhood onset of photosensitivity and sometimes liver damage.
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Familial porphyria cutanea tarda 1 trial
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Hepatoerythropoietic porphyria 0 trials